gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00107503 (SAS)
Genomes Max Group AF
0.0004082 (SAS)
Exomes Max Group AF
0.00108137 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10039822C>T , CM000665.2:g.10039822C>T | GRCh38 |
| NC_000003.11:g.10081506C>T , CM000665.1:g.10081506C>T | GRCh37 |
| NC_000003.10:g.10056506C>T | NCBI36 |
| NG_007311.1:g.18394C>T , LRG_306:g.18394C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682647.1:c.*680C>T | ENSP00000506736.1:n.*680C>T | |
| ENST00000675286.1:c.672C>T MANE Select | ENSP00000502379.1:p.His224= | |
| ENST00000676013.1:c.672C>T | ENSP00000501999.1:p.His224= | |
| ENST00000287647.7:c.672C>T | ENSP00000287647.3:p.His224= | |
| ENST00000383807.5:c.672C>T | ENSP00000373318.1:p.His224= | |
| ENST00000419585.5:c.672C>T | ENSP00000398754.1:p.His224= | |
| ENST00000431693.1:c.672C>T | ENSP00000399354.1:p.His224= | |
| ENST00000438741.1:n.387C>T | ||
| NM_001018115.1:c.672C>T , LRG_306t1:c.672C>T | NP_001018125.1:p.His224= | |
| NM_033084.3:c.672C>T , LRG_306t2:c.672C>T | NP_149075.2:p.His224= | |
| XM_005264946.2:c.672C>T | XP_005265003.1:p.His224= | |
| XM_006713021.2:c.672C>T | XP_006713084.1:p.His224= | |
| XM_006713023.2:c.672C>T | XP_006713086.1:p.His224= | |
| XM_006713024.2:c.672C>T | XP_006713087.1:p.His224= | |
| XM_011533479.1:c.672C>T | XP_011531781.1:p.His224= | |
| XR_940391.1:n.792C>T | ||
| NM_001018115.2:c.672C>T | NP_001018125.1:p.His224= | |
| NM_001319984.1:c.672C>T | NP_001306913.1:p.His224= | |
| NM_033084.4:c.672C>T | NP_149075.2:p.His224= | |
| NM_001018115.3:c.672C>T MANE Select | NP_001018125.1:p.His224= | |
| NM_001319984.2:c.672C>T | NP_001306913.1:p.His224= | |
| NM_001374253.1:c.672C>T | NP_001361182.1:p.His224= | |
| NM_001374254.1:c.672C>T | NP_001361183.1:p.His224= | |
| NM_001374255.1:c.672C>T | NP_001361184.1:p.His224= | |
| NM_033084.6:c.672C>T | NP_149075.2:p.His224= |